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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95859: Variant p.Leu223Pro

Tetraspanin-12
Gene: TSPAN12
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Variant information Variant position: help 223
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 223 (L223P, p.Leu223Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In EVR5.


Sequence information Variant position: help 223
Protein sequence length: help 305
Location on the sequence: help QEGCGKKMYSFLRGTKQLQV L RFLGISIGVTQILAMILTIT
Residue conservation: help 
Human                         QEGCGKKMYSFLRGTKQLQVLRFLGISIGVTQILAMILTIT

Mouse                         QEGCGKKMYSFLRGTKQLQVLRFLGISIGVTQILAMILTIT

Rat                           QEGCGKKMYSFLRGTKQLQVLRFLGISIGVTQILAMILTIT

Bovine                        QEGCGKKMYSFLRGTKQLQVLRFLGISIGVTQILAMILTIT

Chicken                       QEGCGKKMYTFLRGTKQLQVLRFLGISIGVTQILAMILTIT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 305 Tetraspanin-12
Topological domain 111 – 224 Extracellular



Literature citations
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter J.A.; Davidson A.E.; Ali M.; Gilmour D.F.; Parry D.A.; Mintz-Hittner H.A.; Carr I.M.; Bottomley H.M.; Long V.W.; Downey L.M.; Sergouniotis P.I.; Wright G.A.; MacLaren R.E.; Moore A.T.; Webster A.R.; Inglehearn C.F.; Toomes C.;
Invest. Ophthalmol. Vis. Sci. 53:2873-2879(2012)
Cited for: VARIANTS EVR5 MET-49; CYS-138 AND PRO-223;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.